Submissions for variant NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser)

gnomAD frequency: 0.14124  dbSNP: rs28661939

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000272402	SCV000447285	likely benign	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001762243	SCV001989339	benign	not provided	2021-08-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001762243	SCV005256084	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118070	SCV000152400	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118070	SCV001740654	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118070	SCV001955476	benign	not specified		no assertion criteria provided	clinical testing